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From Lab to Clinic: Translational Research for Rare Diseases

Gain an overview of the issues, challenges, and opportunities in translating research into treatments for rare disease patients.

2,057 enrolled on this course

A close up shot of a female scientist conduction clinical research, as she looks down a microscope, studying rare diseases
  • Duration

    5 weeks
  • Weekly study

    4 hours

Discover how research is translated into drugs and treatments for RD patients

On this five-week course from the European Joint Programme on Rare Diseases, you’ll explore the drug development process from the unique perspective of rare diseases.

You will follow the journey from discovery to approved products, learn how therapeutic targets and drug candidates are identified and validated, and examine the special regulatory frameworks.

Describe translational medicine phases like drug discovery, clinical trials and regulatory approval

Guided by experts in the field of rare diseases, you’ll examine current research projects, and learn the definitions and contexts, as well as hearing from patients directly involved in clinical research.

You will explore some of the specific challenges of the drug development process, gaining contextual insights into this vital area of medical research.

Understand the do’s and don’ts when moving from bench to bedside

From first-in-man to post-marketing studies, you’ll trace each step of a clinical trial, learning to plan and design your trial and address any regulatory issues.

You’ll examine how to end a clinical trial and how to approach marketing approval and authorisation. You’ll also investigate data sharing and reuse post-trial.

By the end of this course, you’ll understand how, during the process of translational research, you build evidence that a treatment is safe and effective.

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Skip to 0 minutes and 0 seconds Developing therapies for rare diseases is complex. Still, you have the ambition to contribute to this as a PhD student, a health care professional, a researcher, a biotech developer, a patient, or patients representative, and you want to learn the different steps involved in this process. The European Joint Programme on Rare Diseases has developed the online course Introduction to Translational Research for Rare Diseases, where you can discover the issues, challenges, and opportunities in translating basic research findings into medical treatments and therapies for rare diseases. Five weeks of courses, 15 hours of content, 117 learning steps, 47 videos, nine international experts, including patient experts, and lots of exercises, quizzes, and activities. Are you ready to learn more about translational research for rare diseases?

Skip to 0 minutes and 55 seconds Are you ready to make a change for all the patients? We’re counting on you.


  • Week 1

    Getting into the Translational Medicine

    • Welcome and introduction

      Welcome to this MOOC! In this subactivity you will be introduced to this course, by understanding in which context it has been developed, who are the authors and the main subjects that will be addressed throughout the weeks.

    • Setting the scene

      Here you will learn what a rare disease is, and which are its main features. You will also get introduced to the typical medicines development process and its different phases.

    • What are the specific challenges and opportunities when developing medicines for rare diseases?

      The development process of medicines for rare diseases poses specific challenges with regard to common drugs, for this reason precise initiatives have been developed.

    • Developing a treatment for a rare disease: a case example

      You will be now introduced to the real case of the TK2 deficiency. This will allow you to better understand the challenges and opportunities linked to the treatment development for RDs.

    • Key tools for rare disease research studies

      Successful drug development requires a deep understanding of the disease of interest; for this reason, patient registries and natural history studies are valuable sources of information especially in the rare disease field.

    • Test your knowledge

      What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

  • Week 2

    How to move from bench to preclinic studies

    • Welcome and introduction

      In this week you will learn about the very first steps of the drug development process: target identification, lead generation and optimization. At the end of the week, we will discuss also about drug repurposing.

    • How to plan the development of new medicines: an introduction

      The development process of a new drug consists in a series of activities highly regulated and interconnected, surprisingly similar to the building of a Lego model.

    • The target identification

      Drug discovery starts with the initial step of target identification, in other words, a possible therapeutic target (that can be a gene or a protein) and its role in the disease. Several approaches can be used.

    • Going from hits to leads

      Once a promising drug target has been identified, drug development continues with the identification of molecules that can interact with the target to produce desired biological effects, called hits.

    • Drug repurposing

      Drug repurposing consists in finding new therapeutic uses for already existing drugs different from the original medical indication. This approach allows to speed up drug development, by reducing risks and investment.

    • Developing therapies in rare diseases: the promises of new advanced therapies

      Not all the medicines are small-molecule drugs. In this subactivity we will present new advanced therapies and the challenges related to their implementation.

    • Check your knowledge

      What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

  • Week 3

    Preclinical models for rare diseases

    • Welcome and introduction

      What are model systems? Why are they needed in preclinical research? Are all model systems equivalent? How recent genetic technologies have impacted on the development of model systems?

    • What are animal models?

      Model organisms are important to obtain knowledge about specific phenomena. But how many models do exist? How to choose the best one?

    • Challenges and new model options in rare diseases

      The choice of the good animal model must take into account the advantages and the limitations of each of them. In the field of rare diseases, this is particularly important, given the specificities of these pathologies.

    • Ethics and animal modeling

      The use of animals in research is essential for enabling researchers to develop new drugs and treatments, but it must follow ethical guidelines known as 3Rs that attempt to lower animal distress and suffering.

    • When to use which types of animal models?

      What considerations must be made when choosing the model animal for a pre-clinical study?

    • Moving from preclinical to clinical studies

      Moving to clinical trials requires to get all the answers that you need from your preclinical model system(s) in order to avoid later suboptimal clinical trials.

    • Why patient partnerships should be developed from the early stages of research

      Thanks to the testimony of Michela, we will understand why and how people living with a rare disease can be a veritable booster for the preclinical research studies.

    • Test your knowledge

      What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

  • Week 4

    Clinical trials: for and with rare disease patients

    • Welcome and introduction

      What happens when moving from preclinical studies to clinical trials? Which are the challenges related to the implementation of clinical trials in the rare disease field?

    • Avoiding common mistakes when moving from preclinical to clinical studies

      In order to be effective and to avoid mistakes, clinical trials must be well designed and patients should always be involved. The case example of Drisapersen clearly show the importance of an optimal trial design.

    • From pre-clinical to first-in-human

      What aspects must be considered when setting up a first-in-human clinical trial? Which parameters must be analyzed to establish the efficacy and the safety of a treatment?

    • A real planning process

      The planning and the development of clinical trials is a teamwork and involves the conduction of several activities in parallel.

    • Clinical trial design

      We will now illustrate the challenges related to the implementation of clinical trials, especially in the field of rare diseases and the measures that has been developed to address them.

    • Regulatory issues

      We will discuss the role of regulatory agencies in the development of a medical treatment and the place of patients in regulatory activities.

    • Patient Reported Outcomes

      Patient-reported outcomes are used to assess a patient's health status at a particular point in time. They are particularly relevant when performing clinical trials, the testimony of Jean-Philippe Plançon will explain why.

    • Check your knowledge

      What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

  • Week 5

    What happens after a clinical trial?

    • Welcome and introduction

      Welcome to the last week of the course! During this week we will understand what happens after the end of a clinical trial and we will discuss what registries are and why data sharing is particularly relevant in the field of RD.

    • Ending a clinical trial and drug approval process overview

      After the successful finalization of a clinical trial, a medicine or a therapeutic intervention receives marketing authorization, moreover, pricing and reimbursement decisions must be taken.

    • Post marketing authorization studies

      After the marketing approval of a drug or a treatment, the Phase IV of clinical trials starts. This phase is intended to obtain further information about the risks, benefits, and long-term effects of the product.

    • Preclinical & clinical data sharing and reuse

      Sharing and reuse of health data have several advantages in promoting scientific and clinical research, especially in the rare disease context.

    • Check your knowledge

      Time to assess what you have understood this week and to reflect on what you have learnt in this course.

When would you like to start?

Start straight away and join a global classroom of learners. If the course hasn’t started yet you’ll see the future date listed below.

  • Available now

Learning on this course

On every step of the course you can meet other learners, share your ideas and join in with active discussions in the comments.

What will you achieve?

By the end of the course, you‘ll be able to...

  • Report how new therapeutic targets are identified
  • Explain what is meant by hit identification and leads optimization
  • Summarise the concept of drug repurposing and why it is particularly relevant in the field of rare diseases
  • Describe what preclinical model systems are and why they are used to study rare diseases and to develop therapeutic approaches
  • Summarise the concept of “3Rs” and the ethical aspects of using animals for therapy development
  • Report how clinical trials are conducted and sponsored
  • Debate the specific challenges of clinical trials for rare diseases
  • Describe the role of regulatory agencies and the regulatory framework to develop a treatment for rare diseases
  • Discuss why the implication of patients is key in each phase of the therapeutic development, especially in the field of rare diseases
  • Explain the concepts of data use and data sharing

Who is the course for?

This course is designed for researchers and students in medicine and health-related research fields, as well as healthcare professionals wanting to further their knowledge of translational research in rare diseases.

It is also suitable for biotech and start-up developers and Patients Advocacy Organisation representatives who want to increase their understanding of current practices in therapeutic developments for rare diseases.

This course has been developed through funding from the EJP RD project.

The European Joint Programme on Rare Diseases is an initiative that has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement N825575.

EU logo

Who will you learn with?

I have worked in preclinical therapy development in rare diseases (mostly Duchenne muscular dystrophy) for over 20 years and am also involved in multistakeholder networking and education.

I am a board-certified neurologist and neuropathologist with long-standing experience in neuromuscular diseases. I coordinate the Europeann reference network for rare neuromuscular diseases (EURO-NMD)

I am a Research Policy and Initiatives Director at EURORDIS, Rare Diseases Europe. Since 2019, I have been involved in the development of several MOOCs as part of the EJP RD.

Innovation Manager in the European Joint Programme on Rare Diseases and National Coordinator EATRIS Norway. PhD Molecular Biology on Rare Disease. 10 years of Drug discovery experience from industry.

Agustín Arasanz is a biologist and works as an Innovation Manager at VHIR, Barcelona. In 2019 he joined EJP -RD to coordinate the Mentoring service for Rare diseases research project.

I am Head of Training at EATRIS, the European Research Infrastructure for Translational Medicine. I coordinated the development of week 1 within the European Joint Programme for Rare Diseases.

PhD in Genetics and Postdoc experience; working for the past years in the management of EU projects for rare diseases. In Jan 2021, I joined the Coordination of ERN EURO-NMD as Senior Project Manager.

Scientific projet manager at Fondation Maladies Rares. I coordinate the development of this and other MOOCs within the European Joint Programme on Rare Diseases.

Who developed the course?

Foundation for Rare Diseases

The Foundation for Rare Diseases is coordinating a series of courses on rare diseases research topics within the context of the European Joint Programme on Rare Diseases. The first course will address research issues related to diagnosis in the rare diseases context.

European Joint Programme on Rare Diseases

The European Joint Programme on Rare Diseases (EJP RD) brings over 130 institutions (including all 24 ERNs) from 35 countries to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.

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